Canonical Allele Identifier: CA401087979

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75834330C>A , CM000679.2:g.75834330C>A	GRCh38
NC_000017.10:g.73830411C>A , CM000679.1:g.73830411C>A	GRCh37
NC_000017.9:g.71342006C>A	NCBI36
NG_007266.1:g.15388G>T , LRG_122:g.15388G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2293G>T MANE Select	NP_954712.1:p.Glu765Ter
ENST00000207549.9:c.2293G>T MANE Select	ENSP00000207549.3:p.Glu765Ter
NM_199242.2:c.2293G>T , LRG_122t1:c.2293G>T	NP_954712.1:p.Glu765Ter
ENST00000207549.8:c.2293G>T	ENSP00000207549.3:p.Glu765Ter
ENST00000412096.6:c.2293G>T	ENSP00000388093.1:p.Glu765Ter
ENST00000591563.5:n.2563G>T
ENST00000591616.1:n.654G>T
ENST00000699510.1:c.1159G>T	ENSP00000514405.1:p.Glu387Ter
XM_011524504.1:c.2293G>T	XP_011522806.1:p.Glu765Ter
XM_011524504.2:c.2293G>T	XP_011522806.1:p.Glu765Ter
XM_011524505.1:c.2293G>T	XP_011522807.1:p.Glu765Ter
XM_011524506.1:c.2290G>T	XP_011522808.1:p.Glu764Ter
XM_011524507.1:c.1684G>T	XP_011522809.1:p.Glu562Ter
XM_011524507.2:c.1684G>T	XP_011522809.1:p.Glu562Ter
XM_011524508.1:c.1684G>T	XP_011522810.1:p.Glu562Ter
XM_024450640.1:c.1684G>T	XP_024306408.1:p.Glu562Ter